副腎白質ジストロフィー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000033.4(ABCD1):c.253dup (p.Arg85fs)	ABCD1	Pathogenic	X	152990969	152990970	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278445
single nucleotide variant	NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)	ABCD1	Pathogenic	X	152991014	152991014	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098560
single nucleotide variant	NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	ABCD1	Pathogenic/Likely pathogenic	X	152991032	152991032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098597
single nucleotide variant	NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)	ABCD1	Likely pathogenic	X	152991041	152991041	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	ABCD1	Pathogenic/Likely pathogenic	X	152991067	152991067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278414,UniProtKB:P33897#VAR_000030
single nucleotide variant	NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)	ABCD1	Pathogenic	X	152991067	152991067	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)	ABCD1	Pathogenic	X	152991127	152991127	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278415
Deletion	NM_000033.4(ABCD1):c.408del (p.Gln136fs)	ABCD1	Pathogenic	X	152991129	152991129	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	ABCD1	Pathogenic	X	152991142	152991142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278381,UniProtKB:P33897#VAR_000033
single nucleotide variant	NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)	ABCD1	Likely pathogenic	X	152991163	152991163	A	T	criteria provided, single submitter	ClinGen:CA415098863